CDG or not CDG
Author:
Affiliation:
1. Human Genetics Program Sanford Burnham Prebys La Jolla California USA
2. Center of Metabolic Diseases KU Leuven Leuven Belgium
3. Department of Human Genetics KU Leuven Leuven Belgium
Funder
National Institute of Diabetes and Digestive and Kidney Diseases
National Institute of Neurological Disorders and Stroke
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12498
Reference13 articles.
1. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90
2. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
3. Chemical Therapies for Congenital Disorders of Glycosylation
4. Small RNAs are modified with N-glycans and displayed on the surface of living cells
5. ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes
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2. Missense variant in PIGM associated with severe cystic encephalomalacia and portal vein thrombosis: Phenotypic and genotypic expansion of the glycosylphosphatidylinositol biosynthesis defect‐1 (GPIBD1);American Journal of Medical Genetics Part A;2024-08-09
3. Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2‐CDG);Journal of Inherited Metabolic Disease;2024-08-06
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5. Genetics of glycosylation in mammalian development and disease;Nature Reviews Genetics;2024-05-09
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